Disease: Abetalipoproteinemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199422221
rs199422221
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		T 0.800 CausalMutation CLINVAR Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. 23475612 2013
dbSNP: rs199422221
rs199422221
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
dbSNP: rs199422221
rs199422221
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		T 0.800 CausalMutation CLINVAR It is of interest that the patient having the Asn780Tyr mutation, a 27-year-old male, has none of the manifestations characteristic of classic ABL even though his plasma apoB and vitamin E were virtually undetectable. 10946006 2000